PGM1 (phosphoglucomutase 1)

2007-04-01  

Identity

HGNC
PGM1
LOCATION
1p31.3
LOCUSID
5236
ALIAS
CDG1T,GSD14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5236
MIM: 171900
HGNC: 8905
Ensembl: ENSG00000079739

Variants:

dbSNP: 5236
ClinVar: 5236
TCGA: ENSG00000079739
COSMIC: PGM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079739ENST00000371083P36871
ENSG00000079739ENST00000371084P36871
ENSG00000079739ENST00000540265P36871
ENSG00000079739ENST00000650546A0A3B3ITK7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Pentose phosphate pathwayKEGGko00030
Galactose metabolismKEGGko00052
Purine metabolismKEGGko00230
Starch and sucrose metabolismKEGGko00500
Amino sugar and nucleotide sugar metabolismKEGGko00520
Glycolysis / GluconeogenesisKEGGhsa00010
Pentose phosphate pathwayKEGGhsa00030
Galactose metabolismKEGGhsa00052
Purine metabolismKEGGhsa00230
Starch and sucrose metabolismKEGGhsa00500
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Nucleotide sugar biosynthesis, glucose => UDP-glucoseKEGGhsa_M00549
Nucleotide sugar biosynthesis, glucose => UDP-glucoseKEGGM00549
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Galactose catabolismREACTOMER-HSA-70370
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166186245acetaldehydeChemicalClinicalAnnotationassociatedPK31002879

References

Pubmed IDYearTitleCitations
244992112014Multiple phenotypes in phosphoglucomutase 1 deficiency.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
153780302004Regulation of phosphoglucomutase 1 phosphorylation and activity by a signaling kinase.24
193770682009Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.21
252888022014Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.17
184957432008Glomerular expression of monocyte chemoattractant protein-1 is predictive of poor renal prognosis in pediatric lupus nephritis.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
203786052010In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium.9
269723392016Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.8
180913622007Phosphoglucomutase genetic polymorphism and body mass.7

Citation

Dessen P

PGM1 (phosphoglucomutase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47415/pgm1